Etiology
Ma J,
Ma X,
Lin K,
Huang R,
Bi X,
Ming C,
Li L,
Li X,
Li G,
Zhao L,
Yang T,
Gao Y,
Zhang T
Hum Genomics
2023 Jan 4;17(1):1.
doi: 10.1186/s40246-022-00449-1.
PMID: 36597107Free PMC Article
Gao FJ,
Wang DD,
Chen F,
Sun HX,
Hu FY,
Xu P,
Li J,
Liu W,
Qi YH,
Li W,
Wang M,
Zhang S,
Xu GZ,
Chang Q,
Wu JH
Br J Ophthalmol
2021 Jan;105(1):87-92.
Epub 2020 Mar 18
doi: 10.1136/bjophthalmol-2020-315878.
PMID: 32188678Free PMC Article
Sun T,
Xu K,
Ren Y,
Xie Y,
Zhang X,
Tian L,
Li Y
Invest Ophthalmol Vis Sci
2018 Mar 1;59(3):1229-1237.
doi: 10.1167/iovs.17-23312.
PMID: 29625443
Karikkineth AC,
Scheibye-Knudsen M,
Fivenson E,
Croteau DL,
Bohr VA
Ageing Res Rev
2017 Jan;33:3-17.
Epub 2016 Aug 6
doi: 10.1016/j.arr.2016.08.002.
PMID: 27507608Free PMC Article
Karaa A,
Goldstein A
Pediatr Diabetes
2015 Feb;16(1):1-9.
Epub 2014 Oct 20
doi: 10.1111/pedi.12223.
PMID: 25330715
Diagnosis
Ma J,
Ma X,
Lin K,
Huang R,
Bi X,
Ming C,
Li L,
Li X,
Li G,
Zhao L,
Yang T,
Gao Y,
Zhang T
Hum Genomics
2023 Jan 4;17(1):1.
doi: 10.1186/s40246-022-00449-1.
PMID: 36597107Free PMC Article
Koyanagi Y,
Akiyama M,
Nishiguchi KM,
Momozawa Y,
Kamatani Y,
Takata S,
Inai C,
Iwasaki Y,
Kumano M,
Murakami Y,
Omodaka K,
Abe T,
Komori S,
Gao D,
Hirakata T,
Kurata K,
Hosono K,
Ueno S,
Hotta Y,
Murakami A,
Terasaki H,
Wada Y,
Nakazawa T,
Ishibashi T,
Ikeda Y,
Kubo M,
Sonoda KH
J Med Genet
2019 Oct;56(10):662-670.
Epub 2019 Jun 17
doi: 10.1136/jmedgenet-2018-105691.
PMID: 31213501
Sun T,
Xu K,
Ren Y,
Xie Y,
Zhang X,
Tian L,
Li Y
Invest Ophthalmol Vis Sci
2018 Mar 1;59(3):1229-1237.
doi: 10.1167/iovs.17-23312.
PMID: 29625443
Karikkineth AC,
Scheibye-Knudsen M,
Fivenson E,
Croteau DL,
Bohr VA
Ageing Res Rev
2017 Jan;33:3-17.
Epub 2016 Aug 6
doi: 10.1016/j.arr.2016.08.002.
PMID: 27507608Free PMC Article
Karaa A,
Goldstein A
Pediatr Diabetes
2015 Feb;16(1):1-9.
Epub 2014 Oct 20
doi: 10.1111/pedi.12223.
PMID: 25330715
Therapy
Mansard L,
Baux D,
Vaché C,
Blanchet C,
Meunier I,
Willems M,
Faugère V,
Baudoin C,
Moclyn M,
Bianchi J,
Dollfus H,
Gilbert-Dussardier B,
Dupin-Deguine D,
Bonneau D,
Drumare I,
Odent S,
Zanlonghi X,
Claustres M,
Koenig M,
Kalatzis V,
Roux AF
Int J Mol Sci
2021 Dec 10;22(24)
doi: 10.3390/ijms222413294.
PMID: 34948090Free PMC Article
Chertkof J,
Hufnagel RB,
Blain D,
Gropman AL,
Brooks BP
Ophthalmic Genet
2020 Oct;41(5):497-500.
Epub 2020 Aug 13
doi: 10.1080/13816810.2020.1799416.
PMID: 32787478Free PMC Article
Hastings ML,
Jones TA
Neurotherapeutics
2019 Apr;16(2):348-359.
doi: 10.1007/s13311-019-00729-0.
PMID: 30972560Free PMC Article
Moore NA,
Morral N,
Ciulla TA,
Bracha P
Expert Opin Biol Ther
2018 Jan;18(1):37-49.
Epub 2017 Oct 23
doi: 10.1080/14712598.2018.1389886.
PMID: 29057663
Nagel-Wolfrum K,
Baasov T,
Wolfrum U
Adv Exp Med Biol
2014;801:741-7.
doi: 10.1007/978-1-4614-3209-8_93.
PMID: 24664766
Prognosis
Mansard L,
Baux D,
Vaché C,
Blanchet C,
Meunier I,
Willems M,
Faugère V,
Baudoin C,
Moclyn M,
Bianchi J,
Dollfus H,
Gilbert-Dussardier B,
Dupin-Deguine D,
Bonneau D,
Drumare I,
Odent S,
Zanlonghi X,
Claustres M,
Koenig M,
Kalatzis V,
Roux AF
Int J Mol Sci
2021 Dec 10;22(24)
doi: 10.3390/ijms222413294.
PMID: 34948090Free PMC Article
Colombo L,
Maltese PE,
Castori M,
El Shamieh S,
Zeitz C,
Audo I,
Zulian A,
Marinelli C,
Benedetti S,
Costantini A,
Bressan S,
Percio M,
Ferri P,
Abeshi A,
Bertelli M,
Rossetti L
Invest Ophthalmol Vis Sci
2021 Feb 1;62(2):13.
doi: 10.1167/iovs.62.2.13.
PMID: 33576794Free PMC Article
Gao FJ,
Wang DD,
Chen F,
Sun HX,
Hu FY,
Xu P,
Li J,
Liu W,
Qi YH,
Li W,
Wang M,
Zhang S,
Xu GZ,
Chang Q,
Wu JH
Br J Ophthalmol
2021 Jan;105(1):87-92.
Epub 2020 Mar 18
doi: 10.1136/bjophthalmol-2020-315878.
PMID: 32188678Free PMC Article
Bonnet C,
Riahi Z,
Chantot-Bastaraud S,
Smagghe L,
Letexier M,
Marcaillou C,
Lefèvre GM,
Hardelin JP,
El-Amraoui A,
Singh-Estivalet A,
Mohand-Saïd S,
Kohl S,
Kurtenbach A,
Sliesoraityte I,
Zobor D,
Gherbi S,
Testa F,
Simonelli F,
Banfi S,
Fakin A,
Glavač D,
Jarc-Vidmar M,
Zupan A,
Battelino S,
Martorell Sampol L,
Claveria MA,
Catala Mora J,
Dad S,
Møller LB,
Rodriguez Jorge J,
Hawlina M,
Auricchio A,
Sahel JA,
Marlin S,
Zrenner E,
Audo I,
Petit C
Eur J Hum Genet
2016 Dec;24(12):1730-1738.
Epub 2016 Jul 27
doi: 10.1038/ejhg.2016.99.
PMID: 27460420Free PMC Article
Jiang L,
Liang X,
Li Y,
Wang J,
Zaneveld JE,
Wang H,
Xu S,
Wang K,
Wang B,
Chen R,
Sui R
Orphanet J Rare Dis
2015 Sep 4;10:110.
doi: 10.1186/s13023-015-0329-3.
PMID: 26338283Free PMC Article
Clinical prediction guides
Ma J,
Ma X,
Lin K,
Huang R,
Bi X,
Ming C,
Li L,
Li X,
Li G,
Zhao L,
Yang T,
Gao Y,
Zhang T
Hum Genomics
2023 Jan 4;17(1):1.
doi: 10.1186/s40246-022-00449-1.
PMID: 36597107Free PMC Article
Bonnet C,
Riahi Z,
Chantot-Bastaraud S,
Smagghe L,
Letexier M,
Marcaillou C,
Lefèvre GM,
Hardelin JP,
El-Amraoui A,
Singh-Estivalet A,
Mohand-Saïd S,
Kohl S,
Kurtenbach A,
Sliesoraityte I,
Zobor D,
Gherbi S,
Testa F,
Simonelli F,
Banfi S,
Fakin A,
Glavač D,
Jarc-Vidmar M,
Zupan A,
Battelino S,
Martorell Sampol L,
Claveria MA,
Catala Mora J,
Dad S,
Møller LB,
Rodriguez Jorge J,
Hawlina M,
Auricchio A,
Sahel JA,
Marlin S,
Zrenner E,
Audo I,
Petit C
Eur J Hum Genet
2016 Dec;24(12):1730-1738.
Epub 2016 Jul 27
doi: 10.1038/ejhg.2016.99.
PMID: 27460420Free PMC Article
Jiang L,
Liang X,
Li Y,
Wang J,
Zaneveld JE,
Wang H,
Xu S,
Wang K,
Wang B,
Chen R,
Sui R
Orphanet J Rare Dis
2015 Sep 4;10:110.
doi: 10.1186/s13023-015-0329-3.
PMID: 26338283Free PMC Article
Lenassi E,
Vincent A,
Li Z,
Saihan Z,
Coffey AJ,
Steele-Stallard HB,
Moore AT,
Steel KP,
Luxon LM,
Héon E,
Bitner-Glindzicz M,
Webster AR
Eur J Hum Genet
2015 Oct;23(10):1318-27.
Epub 2015 Feb 4
doi: 10.1038/ejhg.2014.283.
PMID: 25649381Free PMC Article
Le Quesne Stabej P,
Saihan Z,
Rangesh N,
Steele-Stallard HB,
Ambrose J,
Coffey A,
Emmerson J,
Haralambous E,
Hughes Y,
Steel KP,
Luxon LM,
Webster AR,
Bitner-Glindzicz M
J Med Genet
2012 Jan;49(1):27-36.
Epub 2011 Dec 1
doi: 10.1136/jmedgenet-2011-100468.
PMID: 22135276Free PMC Article